A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610120



Internal ID16050843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7829864..7925394hg38UCSC Ensembl
Innerchr8:7687386..7782916hg19UCSC Ensembl
Innerchr8:7724796..7820326hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3895531
hg1995531
hg1895531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11932n54
Supporting Variantsnssv1105838
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB4A, SPAG11A, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610120
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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